Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089498_113089517delCA5692909TCF7L2c.483+49372_483+49391del (n.483+49372_483+49391del)
c.552+49372_552+49391del (n.552+49372_552+49391del)
c.582_601del (p.Arg194SerfsTer8)
c.492_511del (p.Arg164SerfsTer8)
c.585_604del (p.Arg195SerfsTer8)
c.382-51686_382-51667del (n.382-51686_382-51667del)
c.267_286del (p.Arg89SerfsTer8)
c.654_673del (p.Arg218SerfsTer8)
c.651_670del (p.Arg217SerfsTer8)
c.195_214del (p.Arg65SerfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089516delCA660068030TCF7L2c.483+49390del (n.483+49390del)
c.552+49390del (n.552+49390del)
c.600del (p.Val201LeufsTer?)
c.510del (p.Val171LeufsTer?)
c.603del (p.Val202LeufsTer?)
c.382-51668del (n.382-51668del)
c.285del (p.Val96LeufsTer?)
c.672del (p.Val225LeufsTer?)
c.669del (p.Val224LeufsTer?)
c.213del (p.Val72LeufsTer?)
 dbSNP
10g.113089513A>CCA378532832TCF7L2c.483+49387A>C (n.483+49387A>C)
c.552+49387A>C (n.552+49387A>C)
c.597A>C (p.Gln199His)
c.507A>C (p.Gln169His)
c.600A>C (p.Gln200His)
c.382-51671A>C (n.382-51671A>C)
c.282A>C (p.Gln94His)
c.669A>C (p.Gln223His)
c.666A>C (p.Gln222His)
c.210A>C (p.Gln70His)
10g.113089513A>TCA378532833TCF7L2c.483+49387A>T (n.483+49387A>T)
c.552+49387A>T (n.552+49387A>T)
c.597A>T (p.Gln199His)
c.507A>T (p.Gln169His)
c.600A>T (p.Gln200His)
c.382-51671A>T (n.382-51671A>T)
c.282A>T (p.Gln94His)
c.669A>T (p.Gln223His)
c.666A>T (p.Gln222His)
c.210A>T (p.Gln70His)
10g.113089514A>CCA378532834TCF7L2c.483+49388A>C (n.483+49388A>C)
c.552+49388A>C (n.552+49388A>C)
c.598A>C (p.Lys200Gln)
c.508A>C (p.Lys170Gln)
c.601A>C (p.Lys201Gln)
c.382-51670A>C (n.382-51670A>C)
c.283A>C (p.Lys95Gln)
c.670A>C (p.Lys224Gln)
c.667A>C (p.Lys223Gln)
c.211A>C (p.Lys71Gln)
10g.113089514A>GCA378532835TCF7L2c.483+49388A>G (n.483+49388A>G)
c.552+49388A>G (n.552+49388A>G)
c.598A>G (p.Lys200Glu)
c.508A>G (p.Lys170Glu)
c.601A>G (p.Lys201Glu)
c.382-51670A>G (n.382-51670A>G)
c.283A>G (p.Lys95Glu)
c.670A>G (p.Lys224Glu)
c.667A>G (p.Lys223Glu)
c.211A>G (p.Lys71Glu)
10g.113089514A>TCA378532836TCF7L2c.483+49388A>T (n.483+49388A>T)
c.552+49388A>T (n.552+49388A>T)
c.598A>T (p.Lys200Ter)
c.508A>T (p.Lys170Ter)
c.601A>T (p.Lys201Ter)
c.382-51670A>T (n.382-51670A>T)
c.283A>T (p.Lys95Ter)
c.670A>T (p.Lys224Ter)
c.667A>T (p.Lys223Ter)
c.211A>T (p.Lys71Ter)
10g.113089515A>CCA378532837TCF7L2c.483+49389A>C (n.483+49389A>C)
c.552+49389A>C (n.552+49389A>C)
c.599A>C (p.Lys200Thr)
c.509A>C (p.Lys170Thr)
c.602A>C (p.Lys201Thr)
c.382-51669A>C (n.382-51669A>C)
c.284A>C (p.Lys95Thr)
c.671A>C (p.Lys224Thr)
c.668A>C (p.Lys223Thr)
c.212A>C (p.Lys71Thr)
10g.113089515A>GCA378532838TCF7L2c.483+49389A>G (n.483+49389A>G)
c.552+49389A>G (n.552+49389A>G)
c.599A>G (p.Lys200Arg)
c.509A>G (p.Lys170Arg)
c.602A>G (p.Lys201Arg)
c.382-51669A>G (n.382-51669A>G)
c.284A>G (p.Lys95Arg)
c.671A>G (p.Lys224Arg)
c.668A>G (p.Lys223Arg)
c.212A>G (p.Lys71Arg)
10g.113089515A>TCA378532839TCF7L2c.483+49389A>T (n.483+49389A>T)
c.552+49389A>T (n.552+49389A>T)
c.599A>T (p.Lys200Ile)
c.509A>T (p.Lys170Ile)
c.602A>T (p.Lys201Ile)
c.382-51669A>T (n.382-51669A>T)
c.284A>T (p.Lys95Ile)
c.671A>T (p.Lys224Ile)
c.668A>T (p.Lys223Ile)
c.212A>T (p.Lys71Ile)
10g.113089516A=CA1937197474TCF7L2c.483+49390A= (n.483+49390A=)
c.552+49390A= (n.552+49390A=)
c.600A= (p.Lys200=)
c.510A= (p.Lys170=)
c.603A= (p.Lys201=)
c.382-51668A= (n.382-51668A=)
c.285A= (p.Lys95=)
c.672A= (p.Lys224=)
c.669A= (p.Lys223=)
c.213A= (p.Lys71=)
10g.113089516A>CCA378532840TCF7L2c.483+49390A>C (n.483+49390A>C)
c.552+49390A>C (n.552+49390A>C)
c.600A>C (p.Lys200Asn)
c.510A>C (p.Lys170Asn)
c.603A>C (p.Lys201Asn)
c.382-51668A>C (n.382-51668A>C)
c.285A>C (p.Lys95Asn)
c.672A>C (p.Lys224Asn)
c.669A>C (p.Lys223Asn)
c.213A>C (p.Lys71Asn)
 gnomAD v4
10g.113089516A>GCA1937197475TCF7L2c.483+49390A>G (n.483+49390A>G)
c.552+49390A>G (n.552+49390A>G)
c.600A>G (p.Lys200=)
c.510A>G (p.Lys170=)
c.603A>G (p.Lys201=)
c.382-51668A>G (n.382-51668A>G)
c.285A>G (p.Lys95=)
c.672A>G (p.Lys224=)
c.669A>G (p.Lys223=)
c.213A>G (p.Lys71=)
 dbSNP
10g.113089516A>TCA378532841TCF7L2c.483+49390A>T (n.483+49390A>T)
c.552+49390A>T (n.552+49390A>T)
c.600A>T (p.Lys200Asn)
c.510A>T (p.Lys170Asn)
c.603A>T (p.Lys201Asn)
c.382-51668A>T (n.382-51668A>T)
c.285A>T (p.Lys95Asn)
c.672A>T (p.Lys224Asn)
c.669A>T (p.Lys223Asn)
c.213A>T (p.Lys71Asn)
 gnomAD v4
10g.113089517G>ACA378532844TCF7L2c.483+49391G>A (n.483+49391G>A)
c.552+49391G>A (n.552+49391G>A)
c.601G>A (p.Val201Ile)
c.511G>A (p.Val171Ile)
c.604G>A (p.Val202Ile)
c.382-51667G>A (n.382-51667G>A)
c.286G>A (p.Val96Ile)
c.673G>A (p.Val225Ile)
c.670G>A (p.Val224Ile)
c.214G>A (p.Val72Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.113089517G>CCA378532843TCF7L2c.483+49391G>C (n.483+49391G>C)
c.552+49391G>C (n.552+49391G>C)
c.601G>C (p.Val201Leu)
c.511G>C (p.Val171Leu)
c.604G>C (p.Val202Leu)
c.382-51667G>C (n.382-51667G>C)
c.286G>C (p.Val96Leu)
c.673G>C (p.Val225Leu)
c.670G>C (p.Val224Leu)
c.214G>C (p.Val72Leu)
 gnomAD v4
10g.113089517G=CA1937197476TCF7L2c.483+49391G= (n.483+49391G=)
c.552+49391G= (n.552+49391G=)
c.601G= (p.Val201=)
c.511G= (p.Val171=)
c.604G= (p.Val202=)
c.382-51667G= (n.382-51667G=)
c.286G= (p.Val96=)
c.673G= (p.Val225=)
c.670G= (p.Val224=)
c.214G= (p.Val72=)
10g.113089517G>TCA378532842TCF7L2c.483+49391G>T (n.483+49391G>T)
c.552+49391G>T (n.552+49391G>T)
c.601G>T (p.Val201Phe)
c.511G>T (p.Val171Phe)
c.604G>T (p.Val202Phe)
c.382-51667G>T (n.382-51667G>T)
c.286G>T (p.Val96Phe)
c.673G>T (p.Val225Phe)
c.670G>T (p.Val224Phe)
c.214G>T (p.Val72Phe)
10g.113089518T>ACA378532847TCF7L2c.483+49392T>A (n.483+49392T>A)
c.552+49392T>A (n.552+49392T>A)
c.602T>A (p.Val201Asp)
c.512T>A (p.Val171Asp)
c.605T>A (p.Val202Asp)
c.382-51666T>A (n.382-51666T>A)
c.287T>A (p.Val96Asp)
c.674T>A (p.Val225Asp)
c.671T>A (p.Val224Asp)
c.215T>A (p.Val72Asp)
10g.113089518T>CCA378532845TCF7L2c.483+49392T>C (n.483+49392T>C)
c.552+49392T>C (n.552+49392T>C)
c.602T>C (p.Val201Ala)
c.512T>C (p.Val171Ala)
c.605T>C (p.Val202Ala)
c.382-51666T>C (n.382-51666T>C)
c.287T>C (p.Val96Ala)
c.674T>C (p.Val225Ala)
c.671T>C (p.Val224Ala)
c.215T>C (p.Val72Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.113089518T>GCA378532846TCF7L2c.483+49392T>G (n.483+49392T>G)
c.552+49392T>G (n.552+49392T>G)
c.602T>G (p.Val201Gly)
c.512T>G (p.Val171Gly)
c.605T>G (p.Val202Gly)
c.382-51666T>G (n.382-51666T>G)
c.287T>G (p.Val96Gly)
c.674T>G (p.Val225Gly)
c.671T>G (p.Val224Gly)
c.215T>G (p.Val72Gly)
10g.113089518T=CA1937197477TCF7L2c.483+49392T= (n.483+49392T=)
c.552+49392T= (n.552+49392T=)
c.602T= (p.Val201=)
c.512T= (p.Val171=)
c.605T= (p.Val202=)
c.382-51666T= (n.382-51666T=)
c.287T= (p.Val96=)
c.674T= (p.Val225=)
c.671T= (p.Val224=)
c.215T= (p.Val72=)
10g.113089519T>ACA596094337TCF7L2c.483+49393T>A (n.483+49393T>A)
c.552+49393T>A (n.552+49393T>A)
c.603T>A (p.Val201=)
c.513T>A (p.Val171=)
c.606T>A (p.Val202=)
c.382-51665T>A (n.382-51665T>A)
c.288T>A (p.Val96=)
c.675T>A (p.Val225=)
c.672T>A (p.Val224=)
c.216T>A (p.Val72=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089519T=CA1937197478TCF7L2c.483+49393T= (n.483+49393T=)
c.552+49393T= (n.552+49393T=)
c.603T= (p.Val201=)
c.513T= (p.Val171=)
c.606T= (p.Val202=)
c.382-51665T= (n.382-51665T=)
c.288T= (p.Val96=)
c.675T= (p.Val225=)
c.672T= (p.Val224=)
c.216T= (p.Val72=)
10g.113089520G>ACA378532848TCF7L2c.483+49394G>A (n.483+49394G>A)
c.552+49394G>A (n.552+49394G>A)
c.604G>A (p.Gly202Arg)
c.514G>A (p.Gly172Arg)
c.607G>A (p.Gly203Arg)
c.382-51664G>A (n.382-51664G>A)
c.289G>A (p.Gly97Arg)
c.676G>A (p.Gly226Arg)
c.673G>A (p.Gly225Arg)
c.217G>A (p.Gly73Arg)
10g.113089520G>CCA5692913TCF7L2c.483+49394G>C (n.483+49394G>C)
c.552+49394G>C (n.552+49394G>C)
c.604G>C (p.Gly202Arg)
c.514G>C (p.Gly172Arg)
c.607G>C (p.Gly203Arg)
c.382-51664G>C (n.382-51664G>C)
c.289G>C (p.Gly97Arg)
c.676G>C (p.Gly226Arg)
c.673G>C (p.Gly225Arg)
c.217G>C (p.Gly73Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089520G=CA1937197479TCF7L2c.483+49394G= (n.483+49394G=)
c.552+49394G= (n.552+49394G=)
c.604G= (p.Gly202=)
c.514G= (p.Gly172=)
c.607G= (p.Gly203=)
c.382-51664G= (n.382-51664G=)
c.289G= (p.Gly97=)
c.676G= (p.Gly226=)
c.673G= (p.Gly225=)
c.217G= (p.Gly73=)
10g.113089520G>TCA378532849TCF7L2c.483+49394G>T (n.483+49394G>T)
c.552+49394G>T (n.552+49394G>T)
c.604G>T (p.Gly202Trp)
c.514G>T (p.Gly172Trp)
c.607G>T (p.Gly203Trp)
c.382-51664G>T (n.382-51664G>T)
c.289G>T (p.Gly97Trp)
c.676G>T (p.Gly226Trp)
c.673G>T (p.Gly225Trp)
c.217G>T (p.Gly73Trp)
10g.113089521G>ACA378532852TCF7L2c.483+49395G>A (n.483+49395G>A)
c.552+49395G>A (n.552+49395G>A)
c.605G>A (p.Gly202Glu)
c.515G>A (p.Gly172Glu)
c.608G>A (p.Gly203Glu)
c.382-51663G>A (n.382-51663G>A)
c.290G>A (p.Gly97Glu)
c.677G>A (p.Gly226Glu)
c.674G>A (p.Gly225Glu)
c.218G>A (p.Gly73Glu)
10g.113089521G>CCA378532851TCF7L2c.483+49395G>C (n.483+49395G>C)
c.552+49395G>C (n.552+49395G>C)
c.605G>C (p.Gly202Ala)
c.515G>C (p.Gly172Ala)
c.608G>C (p.Gly203Ala)
c.382-51663G>C (n.382-51663G>C)
c.290G>C (p.Gly97Ala)
c.677G>C (p.Gly226Ala)
c.674G>C (p.Gly225Ala)
c.218G>C (p.Gly73Ala)
10g.113089521G>TCA378532850TCF7L2c.483+49395G>T (n.483+49395G>T)
c.552+49395G>T (n.552+49395G>T)
c.605G>T (p.Gly202Val)
c.515G>T (p.Gly172Val)
c.608G>T (p.Gly203Val)
c.382-51663G>T (n.382-51663G>T)
c.290G>T (p.Gly97Val)
c.677G>T (p.Gly226Val)
c.674G>T (p.Gly225Val)
c.218G>T (p.Gly73Val)
10g.113089523G>ACA214116536TCF7L2c.483+49397G>A (n.483+49397G>A)
c.552+49397G>A (n.552+49397G>A)
c.607G>A (p.Glu203Lys)
c.517G>A (p.Glu173Lys)
c.610G>A (p.Glu204Lys)
c.382-51661G>A (n.382-51661G>A)
c.292G>A (p.Glu98Lys)
c.679G>A (p.Glu227Lys)
c.676G>A (p.Glu226Lys)
c.220G>A (p.Glu74Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.113089523G>CCA378532853TCF7L2c.483+49397G>C (n.483+49397G>C)
c.552+49397G>C (n.552+49397G>C)
c.607G>C (p.Glu203Gln)
c.517G>C (p.Glu173Gln)
c.610G>C (p.Glu204Gln)
c.382-51661G>C (n.382-51661G>C)
c.292G>C (p.Glu98Gln)
c.679G>C (p.Glu227Gln)
c.676G>C (p.Glu226Gln)
c.220G>C (p.Glu74Gln)
10g.113089523G=CA1937197480TCF7L2c.483+49397G= (n.483+49397G=)
c.552+49397G= (n.552+49397G=)
c.607G= (p.Glu203=)
c.517G= (p.Glu173=)
c.610G= (p.Glu204=)
c.382-51661G= (n.382-51661G=)
c.292G= (p.Glu98=)
c.679G= (p.Glu227=)
c.676G= (p.Glu226=)
c.220G= (p.Glu74=)
10g.113089523G>TCA378532854TCF7L2c.483+49397G>T (n.483+49397G>T)
c.552+49397G>T (n.552+49397G>T)
c.607G>T (p.Glu203Ter)
c.517G>T (p.Glu173Ter)
c.610G>T (p.Glu204Ter)
c.382-51661G>T (n.382-51661G>T)
c.292G>T (p.Glu98Ter)
c.679G>T (p.Glu227Ter)
c.676G>T (p.Glu226Ter)
c.220G>T (p.Glu74Ter)
10g.113089524A>CCA378532855TCF7L2c.483+49398A>C (n.483+49398A>C)
c.552+49398A>C (n.552+49398A>C)
c.608A>C (p.Glu203Ala)
c.518A>C (p.Glu173Ala)
c.611A>C (p.Glu204Ala)
c.382-51660A>C (n.382-51660A>C)
c.293A>C (p.Glu98Ala)
c.680A>C (p.Glu227Ala)
c.677A>C (p.Glu226Ala)
c.221A>C (p.Glu74Ala)
10g.113089524A>GCA378532856TCF7L2c.483+49398A>G (n.483+49398A>G)
c.552+49398A>G (n.552+49398A>G)
c.608A>G (p.Glu203Gly)
c.518A>G (p.Glu173Gly)
c.611A>G (p.Glu204Gly)
c.382-51660A>G (n.382-51660A>G)
c.293A>G (p.Glu98Gly)
c.680A>G (p.Glu227Gly)
c.677A>G (p.Glu226Gly)
c.221A>G (p.Glu74Gly)
10g.113089524A>TCA378532857TCF7L2c.483+49398A>T (n.483+49398A>T)
c.552+49398A>T (n.552+49398A>T)
c.608A>T (p.Glu203Val)
c.518A>T (p.Glu173Val)
c.611A>T (p.Glu204Val)
c.382-51660A>T (n.382-51660A>T)
c.293A>T (p.Glu98Val)
c.680A>T (p.Glu227Val)
c.677A>T (p.Glu226Val)
c.221A>T (p.Glu74Val)
10g.113089525G>ACA5692914TCF7L2c.483+49399G>A (n.483+49399G>A)
c.552+49399G>A (n.552+49399G>A)
c.609G>A (p.Glu203=)
c.519G>A (p.Glu173=)
c.612G>A (p.Glu204=)
c.382-51659G>A (n.382-51659G>A)
c.294G>A (p.Glu98=)
c.681G>A (p.Glu227=)
c.678G>A (p.Glu226=)
c.222G>A (p.Glu74=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089525G>CCA378532859TCF7L2c.483+49399G>C (n.483+49399G>C)
c.552+49399G>C (n.552+49399G>C)
c.609G>C (p.Glu203Asp)
c.519G>C (p.Glu173Asp)
c.612G>C (p.Glu204Asp)
c.382-51659G>C (n.382-51659G>C)
c.294G>C (p.Glu98Asp)
c.681G>C (p.Glu227Asp)
c.678G>C (p.Glu226Asp)
c.222G>C (p.Glu74Asp)
10g.113089525G=CA1937197481TCF7L2c.483+49399G= (n.483+49399G=)
c.552+49399G= (n.552+49399G=)
c.609G= (p.Glu203=)
c.519G= (p.Glu173=)
c.612G= (p.Glu204=)
c.382-51659G= (n.382-51659G=)
c.294G= (p.Glu98=)
c.681G= (p.Glu227=)
c.678G= (p.Glu226=)
c.222G= (p.Glu74=)
10g.113089525G>TCA378532858TCF7L2c.483+49399G>T (n.483+49399G>T)
c.552+49399G>T (n.552+49399G>T)
c.609G>T (p.Glu203Asp)
c.519G>T (p.Glu173Asp)
c.612G>T (p.Glu204Asp)
c.382-51659G>T (n.382-51659G>T)
c.294G>T (p.Glu98Asp)
c.681G>T (p.Glu227Asp)
c.678G>T (p.Glu226Asp)
c.222G>T (p.Glu74Asp)
10g.113089526C>ACA378532860TCF7L2c.483+49400C>A (n.483+49400C>A)
c.552+49400C>A (n.552+49400C>A)
c.610C>A (p.Pro204Thr)
c.520C>A (p.Pro174Thr)
c.613C>A (p.Pro205Thr)
c.382-51658C>A (n.382-51658C>A)
c.295C>A (p.Pro99Thr)
c.682C>A (p.Pro228Thr)
c.679C>A (p.Pro227Thr)
c.223C>A (p.Pro75Thr)
10g.113089526C=CA1937197482TCF7L2c.483+49400C= (n.483+49400C=)
c.552+49400C= (n.552+49400C=)
c.610C= (p.Pro204=)
c.520C= (p.Pro174=)
c.613C= (p.Pro205=)
c.382-51658C= (n.382-51658C=)
c.295C= (p.Pro99=)
c.682C= (p.Pro228=)
c.679C= (p.Pro227=)
c.223C= (p.Pro75=)
10g.113089526C>GCA378532861TCF7L2c.483+49400C>G (n.483+49400C>G)
c.552+49400C>G (n.552+49400C>G)
c.610C>G (p.Pro204Ala)
c.520C>G (p.Pro174Ala)
c.613C>G (p.Pro205Ala)
c.382-51658C>G (n.382-51658C>G)
c.295C>G (p.Pro99Ala)
c.682C>G (p.Pro228Ala)
c.679C>G (p.Pro227Ala)
c.223C>G (p.Pro75Ala)
10g.113089526C>TCA378532862TCF7L2c.483+49400C>T (n.483+49400C>T)
c.552+49400C>T (n.552+49400C>T)
c.610C>T (p.Pro204Ser)
c.520C>T (p.Pro174Ser)
c.613C>T (p.Pro205Ser)
c.382-51658C>T (n.382-51658C>T)
c.295C>T (p.Pro99Ser)
c.682C>T (p.Pro228Ser)
c.679C>T (p.Pro227Ser)
c.223C>T (p.Pro75Ser)
 dbSNP gnomAD v4
10g.113089527C>ACA378532863TCF7L2c.483+49401C>A (n.483+49401C>A)
c.552+49401C>A (n.552+49401C>A)
c.611C>A (p.Pro204His)
c.521C>A (p.Pro174His)
c.614C>A (p.Pro205His)
c.382-51657C>A (n.382-51657C>A)
c.296C>A (p.Pro99His)
c.683C>A (p.Pro228His)
c.680C>A (p.Pro227His)
c.224C>A (p.Pro75His)
10g.113089527C=CA1937197483TCF7L2c.483+49401C= (n.483+49401C=)
c.552+49401C= (n.552+49401C=)
c.611C= (p.Pro204=)
c.521C= (p.Pro174=)
c.614C= (p.Pro205=)
c.382-51657C= (n.382-51657C=)
c.296C= (p.Pro99=)
c.683C= (p.Pro228=)
c.680C= (p.Pro227=)
c.224C= (p.Pro75=)
10g.113089527C>GCA378532864TCF7L2c.483+49401C>G (n.483+49401C>G)
c.552+49401C>G (n.552+49401C>G)
c.611C>G (p.Pro204Arg)
c.521C>G (p.Pro174Arg)
c.614C>G (p.Pro205Arg)
c.382-51657C>G (n.382-51657C>G)
c.296C>G (p.Pro99Arg)
c.683C>G (p.Pro228Arg)
c.680C>G (p.Pro227Arg)
c.224C>G (p.Pro75Arg)
10g.113089527C>TCA214116537TCF7L2c.483+49401C>T (n.483+49401C>T)
c.552+49401C>T (n.552+49401C>T)
c.611C>T (p.Pro204Leu)
c.521C>T (p.Pro174Leu)
c.614C>T (p.Pro205Leu)
c.382-51657C>T (n.382-51657C>T)
c.296C>T (p.Pro99Leu)
c.683C>T (p.Pro228Leu)
c.680C>T (p.Pro227Leu)
c.224C>T (p.Pro75Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched